182 related articles for article (PubMed ID: 23073290)
41. Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.
Vastert SJ; van Wijk R; D'Urbano LE; de Vooght KM; de Jager W; Ravelli A; Magni-Manzoni S; Insalaco A; Cortis E; van Solinge WW; Prakken BJ; Wulffraat NM; de Benedetti F; Kuis W
Rheumatology (Oxford); 2010 Mar; 49(3):441-9. PubMed ID: 20019066
[TBL] [Abstract][Full Text] [Related]
42. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
Okur H; Balta G; Akarsu N; Oner A; Patiroglu T; Bay A; Sayli T; Unal S; Gurgey A
Leuk Res; 2008 Jun; 32(6):972-5. PubMed ID: 18190960
[TBL] [Abstract][Full Text] [Related]
43. Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations.
Tesi B; Chiang SC; El-Ghoneimy D; Hussein AA; Langenskiöld C; Wali R; Fadoo Z; Silva JP; Lecumberri R; Unal S; Nordenskjöld M; Bryceson YT; Henter JI; Meeths M
Pediatr Blood Cancer; 2015 Dec; 62(12):2094-100. PubMed ID: 26184781
[TBL] [Abstract][Full Text] [Related]
44. Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.
Mehta PA; Davies SM; Kumar A; Devidas M; Lee S; Zamzow T; Elliott J; Villanueva J; Pullen J; Zewge Y; Filipovich A;
Leukemia; 2006 Sep; 20(9):1539-41. PubMed ID: 16791263
[TBL] [Abstract][Full Text] [Related]
45. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Zhang K; Jordan MB; Marsh RA; Johnson JA; Kissell D; Meller J; Villanueva J; Risma KA; Wei Q; Klein PS; Filipovich AH
Blood; 2011 Nov; 118(22):5794-8. PubMed ID: 21881043
[TBL] [Abstract][Full Text] [Related]
46. Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.
Kim MS; Cho YU; Jang S; Seo EJ; Im HJ; Park CJ
Ann Lab Med; 2017 Mar; 37(2):162-165. PubMed ID: 28029005
[No Abstract] [Full Text] [Related]
47. Variations of the perforin gene in patients with multiple sclerosis.
Cappellano G; Orilieri E; Comi C; Chiocchetti A; Bocca S; Boggio E; Bernardone IS; Cometa A; Clementi R; Barizzone N; D'Alfonso S; Corrado L; Galimberti D; Scarpini E; Guerini FR; Caputo D; Paolicelli D; Trojano M; Figà-Talamanca L; Salvetti M; Perla F; Leone M; Monaco F; Dianzani U
Genes Immun; 2008 Jul; 9(5):438-44. PubMed ID: 18496551
[TBL] [Abstract][Full Text] [Related]
48. Human perforin mutations and susceptibility to multiple primary cancers.
Trapani JA; Thia KY; Andrews M; Davis ID; Gedye C; Parente P; Svobodova S; Chia J; Browne K; Campbell IG; Phillips WA; Voskoboinik I; Cebon JS
Oncoimmunology; 2013 Apr; 2(4):e24185. PubMed ID: 23734337
[TBL] [Abstract][Full Text] [Related]
49. A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.
Voskoboinik I; Thia MC; Trapani JA
Blood; 2005 Jun; 105(12):4700-6. PubMed ID: 15755897
[TBL] [Abstract][Full Text] [Related]
50. An A91V SNP in the perforin gene is frequently found in NK/T-cell lymphomas.
Manso R; Rodríguez-Pinilla SM; Lombardia L; Ruiz de Garibay G; Del Mar López M; Requena L; Sánchez L; Sánchez-Beato M; Piris MÁ
PLoS One; 2014; 9(3):e91521. PubMed ID: 24632576
[TBL] [Abstract][Full Text] [Related]
51. Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease.
Marcenaro S; Gallo F; Martini S; Santoro A; Griffiths GM; Aricó M; Moretta L; Pende D
Blood; 2006 Oct; 108(7):2316-23. PubMed ID: 16778144
[TBL] [Abstract][Full Text] [Related]
52. Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies.
Rudd E; Göransdotter Ericson K; Zheng C; Uysal Z; Ozkan A; Gürgey A; Fadeel B; Nordenskjöld M; Henter JI
J Med Genet; 2006 Apr; 43(4):e14. PubMed ID: 16582076
[TBL] [Abstract][Full Text] [Related]
53. Novel spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis in ethnic Omani patients.
Muralitharan S; Wali YA; Dennison D; Lamki ZA; Zachariah M; Nagwa el B; Pathare A; Krishnamoorthy R
Am J Hematol; 2007 Dec; 82(12):1099-102. PubMed ID: 17674359
[TBL] [Abstract][Full Text] [Related]
54. [Etiology analysis of 38 patients with hemophagocytic syndrome].
Wang JS; Wang Z; Wu L; Chen X; Feng CC
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2010 Oct; 18(5):1316-20. PubMed ID: 21129284
[TBL] [Abstract][Full Text] [Related]
55. Familial hemophagocytic lymphohistiocytosis in a 6-week-old male infant.
Jakovljević G; Kardum-Skelin I; Rogosić S; Culić S; Stepan J; Gagro A; Skarić I; Mikecin L; Bonevski A; Barisić I; Nakić M
Coll Antropol; 2010 Jun; 34(2):631-4. PubMed ID: 20698142
[TBL] [Abstract][Full Text] [Related]
56. Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity.
Saltzman RW; Monaco-Shawver L; Zhang K; Sullivan KE; Filipovich AH; Orange JS
J Allergy Clin Immunol; 2012 Jun; 129(6):1666-8. PubMed ID: 22336081
[TBL] [Abstract][Full Text] [Related]
57. Prolonged course of familial hemophagocytic lymphohistiocytosis.
Steinberg O; Yacobovich J; Dgany O; Kodman Y; Livni G; Rachmel A; Stein J; Yaniv I; Tamary H
J Pediatr Hematol Oncol; 2006 Dec; 28(12):831-3. PubMed ID: 17164654
[TBL] [Abstract][Full Text] [Related]
58. MicroRNA-150 regulates the cytotoxicity of natural killers by targeting perforin-1.
Kim N; Kim M; Yun S; Doh J; Greenberg PD; Kim TD; Choi I
J Allergy Clin Immunol; 2014 Jul; 134(1):195-203. PubMed ID: 24698324
[TBL] [Abstract][Full Text] [Related]
59. Inhibition of term decidual NK cell cytotoxicity by soluble HLA-G1.
Poehlmann TG; Schaumann A; Busch S; Fitzgerald JS; Aguerre-Girr M; Le Bouteiller P; Schleussner E; Markert UR
Am J Reprod Immunol; 2006; 56(5-6):275-85. PubMed ID: 17076671
[TBL] [Abstract][Full Text] [Related]
60. Familial and acquired hemophagocytic lymphohistiocytosis.
Janka GE
Annu Rev Med; 2012; 63():233-46. PubMed ID: 22248322
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]